V2 av_gene
255,731 rows · 29 columns
| GENEID | TUMOURID | PATIENTID | GENE_DESC | GENE | COUNT_TESTS | COUNT_RESULTS | COUNT_DATE | ALL_TESTSTATUSES | OVERALL_TS | NO_OF_AB_GATS | DNASEQ_GAT | METHYL_GAT | EXP_GAT | COPYNO_GAT | FUS_TRANS_GAT | ABNORMAL_GAT | NO_OF_SEQ_VARS | ALL_SEQ_VARS | SEQ_VAR | DATE_OVERALL_TS | BEST_DATE_SOURCE_OVERALL_TS | MIN_DATE | MAX_DATE | ALL_PRO_IMPS | NO_OF_PRO_IMPS | PRO_IMP | METHODS | LAB_NAME |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 200012263 | 10659007 | 200000159 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-07-23 | 2)requesteddate | null | 2018-07-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130150041 | 10930502 | 130029723 | MGMT | 51 | 1 | 1 | 1 | null | g:unknown/null | 1 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | ab:abnormal_copy_no_gain | b:normal_fusion/trans | copy_no_gain | 0 | null | null | 2019-11-06 | 1)authoriseddate | 2019-11-17 | 2019-11-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 200012289 | 11359593 | 200000642 | KIT | 44 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-10-13 | null | 2016-10-29 | null | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 200012307 | 11828280 | 200001141 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-06-09 | 3)receiveddate | null | 2019-07-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 130019090 | 10833723 | 130019090 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-02-03 | 3)receiveddate | 2018-02-04 | 2018-02-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 200012352 | 10180131 | 200001935 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2018-06-05 | 1)authoriseddate | null | null | p.(Tyr646Asp) | 1 | p.(Tyr646Asp) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 200012418 | 10144226 | 200003464 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-04-16 | 1)authoriseddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 200012494 | 11054892 | 200004843 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-04-26 | 2)requesteddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | null |
| 200012545 | 10890179 | 200005712 | KIT | 44 | 1 | 1 | 1 | null | g:unknown/null | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-08-09 | 3)receiveddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 200012572 | 10240901 | 200006276 | KIT | 44 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-25 | 1)authoriseddate | 2018-10-24 | 2019-01-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130019020 | 11877783 | 130019020 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-10 | 2)requesteddate | 2019-07-11 | 2019-07-10 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 230006243 | 10389439 | 230001556 | BRCA2 | 8 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | b:normal_copy_no | n:not_applicable_null | null | 0 | null | null | 2019-12-23 | 1)authoriseddate | 2019-10-04 | 2019-12-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117273 | 10552154 | 130006049 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-11-06 | 1)authoriseddate | 2017-10-25 | 2017-11-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Nottingham (molecular lab) |
| 200012691 | 10924051 | 200000047 | BRAF | 6 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.1799T>A | c.1799T>A | 2018-03-07 | 1)authoriseddate | 2018-03-26 | 2018-03-07 | p.(Val600Glu) | 1 | p.(Val600Glu) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117275 | 11494250 | 130006055 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-07-26 | 1)authoriseddate | 2016-08-19 | 2016-07-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130104122 | 11295741 | 130015409 | MSH2 | 2804 | 1 | 1 | 1 | b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | b:normal_exp | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-06-02 | 3)receiveddate | 2018-07-01 | 2018-06-02 | p.(Arg621Ter),p.(Gln252Ter) | 2 | multiple | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117291 | 10985078 | 130006081 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-26 | 1)authoriseddate | 2019-06-19 | 2019-05-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117292 | 10024847 | 130006082 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-19 | 1)authoriseddate | 2019-02-28 | 2019-02-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Newcastle (molecular lab) |
| 130019079 | 11153627 | 130019079 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-10-16 | 1)authoriseddate | 2016-08-14 | 2016-10-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130117297 | 10436646 | 130006094 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2019-06-28 | 1)authoriseddate | 2019-07-28 | 2019-06-28 | p.Gly12Val | 1 | p.Gly12Val | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 230004348 | 11756443 | 230001878 | BRAF | 6 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-08-25 | 1)authoriseddate | 2016-09-13 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130117302 | 11556722 | 130006101 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2019-11-14 | 1)authoriseddate | 2019-12-08 | 2019-11-14 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117311 | 11479641 | 130006115 | KRAS | 47 | 1 | 2 | 1 | a:abnormal,c:borderline | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2018-02-27 | 1)authoriseddate | 2018-02-28 | 2018-02-27 | p.Gly13Asp | 1 | p.Gly13Asp | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117312 | 11874752 | 130006116 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-29 | 1)authoriseddate | 2018-01-17 | 2018-01-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117319 | 11173660 | 130006129 | KRAS | 47 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-06 | 1)authoriseddate | 2019-03-07 | 2019-02-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117323 | 11390517 | 130006141 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-18 | 1)authoriseddate | 2019-03-28 | 2019-03-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Unknown |
| 130117331 | 10811346 | 130006156 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-11-11 | 1)authoriseddate | 2016-12-10 | 2016-11-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130019077 | 11996993 | 130019077 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-11-04 | 1)authoriseddate | 2018-11-03 | 2018-11-04 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 220011522 | 10322339 | 220001274 | HIST1H3B | 37 | 2 | 2 | 1 | e:failed,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-03-13 | 1)authoriseddate | 2017-03-23 | 2017-03-13 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117335 | 11710887 | 130006160 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-08 | 1)authoriseddate | 2019-03-11 | 2019-03-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117336 | 10227114 | 130006161 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2019-07-26 | 1)authoriseddate | 2019-07-26 | 2019-07-26 | p.Gly12Asp | 1 | p.Gly12Asp | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117337 | 10289092 | 130006162 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>C | c.34G>C | 2018-08-13 | 1)authoriseddate | 2018-08-23 | 2018-08-13 | p.(Gly12Arg) | 1 | p.(Gly12Arg) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117338 | 11648542 | 130006164 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-20 | 1)authoriseddate | 2019-02-11 | 2019-02-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Newcastle (molecular lab) |
| 130117339 | 11827683 | 130006165 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-03-07 | 1)authoriseddate | 2016-03-22 | 2016-03-07 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117344 | 11613878 | 130006172 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-06 | 1)authoriseddate | 2019-06-04 | 2019-11-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130019075 | 10670316 | 130019075 | NRAS | 56 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-07-31 | 1)authoriseddate | 2016-07-29 | 2016-07-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130117650 | 11691344 | 130006651 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-08-26 | 1)authoriseddate | 2017-08-13 | 2017-08-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117663 | 10997663 | 130006674 | KRAS | 47 | 2 | 2 | 2 | a:abnormal,a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2017-05-27 | 1)authoriseddate | 2017-05-01 | 2017-05-28 | p.Gly12Cys | 1 | p.Gly12Cys | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117664 | 10743035 | 130006677 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-06-06 | 1)authoriseddate | 2018-06-21 | 2018-06-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130117667 | 10772298 | 130006682 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2017-03-26 | 3)receiveddate | 2017-04-19 | 2017-03-26 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130117672 | 11619157 | 130006690 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2017-07-14 | 1)authoriseddate | 2017-08-13 | 2017-07-14 | p.(Gly12Cys) | 1 | p.(Gly12Cys) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117675 | 11834862 | 130006697 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-03-31 | 1)authoriseddate | 2017-03-24 | 2017-03-31 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 220008449 | 11911832 | 220001984 | TERT | 77 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2017-05-05 | 1)authoriseddate | null | 2017-05-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130117679 | 11715904 | 130006703 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>A | c.35G>A | 2018-11-09 | 1)authoriseddate | 2018-11-14 | 2018-11-09 | p.(Gly12Asp) | 1 | p.(Gly12Asp) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130117680 | 10621263 | 130006704 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.183A>C | c.183A>C | 2019-06-15 | 1)authoriseddate | 2019-05-20 | 2019-06-15 | p.Gln61His | 1 | p.Gln61His | Sequencing, Next Generation (NGS) | Newcastle (molecular lab) |
| 130117697 | 10024612 | 130006730 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-26 | 1)authoriseddate | 2018-12-04 | 2019-01-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117704 | 11919448 | 130006740 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2019-11-07 | 1)authoriseddate | 2019-12-04 | 2019-11-07 | p.Gly13Asp | 1 | p.Gly13Asp | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117705 | 11249298 | 130006741 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-30 | 1)authoriseddate | 2019-10-08 | 2019-09-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130117706 | 10731862 | 130006742 | KRAS | 47 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-02-14 | 1)authoriseddate | 2018-12-09 | 2019-02-14 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130117707 | 10502246 | 130006744 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.38G>A | c.38G>A | 2019-09-11 | 1)authoriseddate | 2019-09-17 | 2019-09-11 | p.(Gly13Asp) | 1 | p.(Gly13Asp) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |